Brody Disease (BROD)

Alias:
Brody Myopathy
Brod
Myopathy, Brody
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brody Disease, also known as brody myopathy, is related to myopathy and malignant hyperthermia. An important gene associated with Brody Disease is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Beta-Adrenergic Signaling. Affiliated tissues include skeletal muscle and liver, and related phenotypes are motor delay and malignant hyperthermia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
<1/1000000
11
71
23

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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